D2.461 - Endothelial related miRs are dysregulated in C1-INH Angioedema patients: new potential biomarkers and therapeutic targets

Accumulating evidence supports the view of angioedema as an endothelial disorder. Specifically, endothelial mechanisms including endothelial hyperactivation, inflammation and dysfunction seem to strongly contribute to phenotypic variability and severity of hereditary angioedema (C1-INH). However, reliable biomarkers to monitor endothelial dysfunction in these patients, like circulating microRNAs (miRs), are lacking. In this study, we evaluated the expression of a panel of circulating miRs involved in the regulation of endothelial function in a population of C1-INH Angioedema.

We enrolled a population of patients with C1-INH-Angioedema (n=12) and aged and sex matched healthy controls (n=10). Peripheral blood were collected and a microarray for miRs detection was conducted on serum.

Several endothelial related miRs were dysregulated in C1-INH-Angioedema patients. Specifically, miR-21-5p, miR-23a, miR-130a, miR-181-c, miR-210, miR-338, miR-696 were significantly upregulated in C1-INH-Angioedema patients compared to healthy controls, while miR-486 was downregulated. Interestingly, miR-486 circulating levels significantly correlated with Angioedema severity score.

We unveiled a specific endothelial related miRs signature in patients with C1-INH Angioedema. These miRs represent a new potential class of biomarkers and therapeutic targets, useful to monitor and/or treat the endothelial dysfunction in patients with C1-INH Angioedema. Moreover, miR-489 could be useful to predict Angioedema severity.